Short Description

NGS genetic DNA test detecets for variant and mutation detection in PEX1 gene for Zellweger syndrome

PreTest Information

Clinical History of Patient who is going for PEX1 Gene Zellweger syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PEX1 Gene Zellweger syndrome

Detail Description

PEX1 Gene Zellweger Syndrome NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

Zellweger syndrome is a rare genetic disorder that affects the development and function of many organs in the body. It is caused by mutations in the PEX1 gene, which plays a crucial role in the formation of peroxisomes - small organelles that perform various metabolic functions in cells. Zellweger syndrome is inherited in an autosomal recessive manner, meaning that a child must inherit two copies of the mutated PEX1 gene - one from each parent - to develop the condition.

Symptoms of Zellweger Syndrome

The symptoms of Zellweger syndrome can vary depending on the severity of the condition and the affected organs. Some common symptoms include:

• Hypotonia (poor muscle tone)
• Developmental delay
• Seizures
• Hearing and vision loss
• Liver dysfunction
• Kidney cysts
• Abnormal facial features

The symptoms of Zellweger syndrome usually appear within the first few months of life, and the condition is typically fatal within the first year.

Diagnosis of Zellweger Syndrome

Zellweger syndrome can be diagnosed through genetic testing. Specifically, a next-generation sequencing (NGS) DNA test can be performed to analyze the PEX1 gene for mutations. This test can identify mutations in both copies of the gene, confirming a diagnosis of Zellweger syndrome.

In addition to genetic testing, doctors may also perform a physical examination and other tests to evaluate the extent of organ damage and determine the best course of treatment.

Cost of Zellweger Syndrome NGS Genetic DNA Test

The cost of a Zellweger syndrome NGS genetic DNA test can vary depending on the testing provider and location. In India, the cost of this test is typically around INR 20,000. Some insurance plans may cover the cost of genetic testing, so it is important to check with your provider to determine coverage options.

Conclusion

Zellweger syndrome is a rare but devastating genetic disorder that can have serious implications for affected individuals and their families. Genetic testing, specifically NGS DNA testing, can help identify mutations in the PEX1 gene and confirm a diagnosis of Zellweger syndrome. While the cost of this test may vary, it is an important tool for early diagnosis and treatment planning.

At DNA Labs India, we offer a range of genetic testing options to help diagnose and manage genetic disorders like Zellweger syndrome. Contact us today to learn more about our services and how we can help.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for PEX1 Gene Zellweger syndrome NGS Genetic DNA Test